chr15:73329719:C>T Detail (hg38) (HCN4)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr15:73,622,060-73,622,060 View the variant detail on this assembly version. |
| hg38 | chr15:73,329,719-73,329,719 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_005477.2:c.1444G>A | NP_005468.1:p.Gly482Arg |
| Ensemble | ENST00000261917.4:c.1444G>A | ENST00000261917.4:p.Gly482Arg |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 2 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
other |
germline
|
MGS000001
(TMGS000174) |
Kenjiro Kosaki | Keio University | ||||
|
Pathogenic
|
other |
germline
|
MGS000001
(TMGS000179) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
Likely pathogenic
|
2022-10-30 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2023-11-19 | criteria provided, single submitter | Brugada syndrome 8 |
germline
|
Detail |
|
Pathogenic
|
2021-08-27 | criteria provided, single submitter |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.360 | Sick sinus syndrome 2, autosomal dominant | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_005477.3(HCN4):c.1444G>A (p.Gly482Arg) AND not provided | ClinVar | Detail |
| NM_005477.3(HCN4):c.1444G>A (p.Gly482Arg) AND Brugada syndrome 8 | ClinVar | Detail |
| NM_005477.3(HCN4):c.1444G>A (p.Gly482Arg) AND Cardiovascular phenotype | ClinVar | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs794727637 dbSNP
- Genome
- hg38
- Position
- chr15:73,329,719-73,329,719
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser